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Chemical Science Jun 2024Methylation of microRNAs (miRNAs) is a post-transcriptional modification that affects miRNA activity by altering the specificity of miRNAs to target mRNAs. Abnormal...
Methylation of microRNAs (miRNAs) is a post-transcriptional modification that affects miRNA activity by altering the specificity of miRNAs to target mRNAs. Abnormal methylation of miRNAs in cancer suggests their potential as a tumor marker. However, the traditional methylated miRNA detection mainly includes mass spectrometry, sequencing and others; complex procedures and reliance on large instruments greatly limit their application in point-of-care testing (POCT). Based on this, we developed DNAzyme-RCA-based gold nanoparticle (AuNP) colorimetric and lateral flow dipstick (LFD) assays to achieve convenient detection of exosomal 5-methylcytosine miRNA-21 (m5C-miRNA-21) for the first time. The two assays achieved specific recognition and linear amplification of m5C-miRNA-21 through the DNAzyme triggered RCA reaction and color output with low background interference through AuNP aggregation induced by base complementary pairing. The lowest concentration of m5C-miRNA-21 visible to the naked eye of the two assays can reach 1 pM and 0.1 pM, respectively. Detection of exosomal m5C-miRNA-21 in clinical blood samples showed that the expression level of m5C-miRNA-21 in colorectal cancer patients was significantly higher than that in healthy individuals. This approach not only demonstrates a new strategy for the detection of colorectal cancer but also provides a reference for the development of novel diagnostic tools for other miRNA methylation-related diseases.
PubMed: 38903234
DOI: 10.1039/d4sc02648a -
RSC Advances Jun 2024Ascorbic acid plays a pivotal role in the human body. It maintains the robustness, enlargement, and elasticity of the collagen triple helix. However, the abnormal...
Ascorbic acid plays a pivotal role in the human body. It maintains the robustness, enlargement, and elasticity of the collagen triple helix. However, the abnormal concentration of ascorbic acid causes various diseases, such as scurvy, cardiovascular diseases, gingival bleeding, urinary stones, diarrhea, stomach convulsions, In the present work, an iron-doped hydroxyapatite (HAp@FeO)-based biosensor was developed for the colorimetric detection of ascorbic acid based on a low-cost, biocompatible, and ubiquitous material. Due to the catalytic nature of HAp owing to the acidic and basic moieties within the structure, it was used as a template for HAp@FeO synthesis. This approach provides an active as well as large surface area for the sensing of ascorbic acid. The synthesized platform was characterized by various techniques, such as UV-Vis, FTIR, SEM, XRD, TGA, EDX, The HAp@FeO demonstrated inherent peroxidase-like activity in the presence of 3,3',5,5'-tetramethylbenzidine (TMB) oxidized with the assistance of HO. It resulted in the color changing to blue-green, and after the addition of ascorbic acid, the color changed to colorless, resulting in the reduction of TMB. To achieve optimal sensing parameters, experimental conditions were optimized. The quantity of HAp@FeO, HO, pH, TMB, time, and the concentration of ascorbic acid were fine-tuned. The linear range for the proposed sensor was 0.6-56 μM, along with a limit of detection of 0.16 μM and a limit of quantification of 0.53 μM. The proposed sensor detects ascorbic acid within 75 seconds at room temperature. The proposed platform was also applied to quantitatively check the concentration of ascorbic acid in a physiological solution.
PubMed: 38895531
DOI: 10.1039/d4ra02264e -
International Medical Case Reports... 2024This study presents a rare case of multiple evanescent white dot syndrome (MEWDS) with atypical electrooculogram (EOG) findings, as well as abnormal en-face images of...
INTRODUCTION
This study presents a rare case of multiple evanescent white dot syndrome (MEWDS) with atypical electrooculogram (EOG) findings, as well as abnormal en-face images of minimum intensity projection (Min-IP) and the en-face inner segment/outer segment-ellipsoid complex.
METHODS
A 25-year-old female patient presented with painless visual impairment and photopsia in her right eye for a duration of two days. Multimodal imaging was employed including color fundus photography (CFP), fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and optical coherence tomography angiography (OCTA), and en-face images of Min-IP and the en-face inner segment/outer segment-ellipsoid complex were performed.
RESULTS
In the right eye, multifocal small white spots were observed surrounding the posterior pole and optic disc of retina with the granular appearance of the fovea. FAF displayed of hyperfluorescence. SD-OCT appearance of MEWDS demonstrated primarily disrupted ellipsoid zone (EZ), photoreceptor outer segments, and interdigitation zone (IZ) complex within the fovea. The en-face images of the inner segment/outer segment-ellipsoid complex and Min-IP exhibited hyperreflective spots in the right eye. In the left eye, interestingly, hyperreflective spots were also observed on the en-face image of the inner segment/outer segment-ellipsoid complex. EOG revealed an Arden ratio of 2.5 for the right eye, while the left eye exhibited an Arden ratio of 1.7.
CONCLUSION
The en-face image of the inner segment/outer segment-ellipsoid complex in MEWDS exhibits aberrant features and it is noteworthy that a similar alteration may occur in the fellow eye. Further investigation is required to explore the relationship between MEWDS and EOG. The en-face images of the inner segment/outer segment-ellipsoid complex and Min-IP may help to elucidate the pathogenesis of MEWDS.
PubMed: 38895178
DOI: 10.2147/IMCRJ.S468142 -
International Journal of Molecular... May 2024Pathogenic variants in the gene lead to a systemic disease with karyomegalic interstitial nephritis (KIN) at the forefront clinically. The phenotypic-genotypic features...
Pathogenic variants in the gene lead to a systemic disease with karyomegalic interstitial nephritis (KIN) at the forefront clinically. The phenotypic-genotypic features of a mutation-related disease involving five members of a Hungarian Caucasian family are presented. Each had adult-onset chronic kidney disease of unknown cause treated with renal replacement therapy and elevated liver enzymes. Short stature, emaciation, latte-colored skin, freckles, and a hawk-like nose in four patients, a limited intellect in two patients, and chronic restrictive lung disease in one patient completed the phenotype. Severe infections occurred in four patients. All five patients had ceased. Four patients underwent autopsy. KIN and extrarenal karyomegaly were observed histologically; the livers showed no specific abnormality. The genotyping using formalin-fixed tissue samples detected a hitherto undescribed homozygous mutation (c.1673_1674insT/p.Met558lfs*4; exon 5) in three of these patients and a heterozygous mutation in one patient. The reason for the heterozygosity is discussed. In addition, 56 family members consented to the screening for mutation from which 17 individuals proved to be heterozygous carriers; a blood chemistry evaluation of their kidney and liver function did not find any abnormality. The clinical presentation of FAN1-related disease was multifaceted, and not yet described manifestations were observed besides kidney and liver disease. Mutation in this gene should be suspected in adults with small kidneys of unknown cause, elevated liver enzymes, and recurrent infections, even without a family history.
Topics: Humans; Male; Female; Hungary; Mutation; Adult; Phenotype; Pedigree; Middle Aged; Exodeoxyribonucleases; Multifunctional Enzymes; Endodeoxyribonucleases; Genotype; Renal Insufficiency, Chronic
PubMed: 38892095
DOI: 10.3390/ijms25115907 -
Surgical Case Reports Jun 2024Gerbode defect is an unusual abnormal communication between the left ventricle and the right atrium and is a serious complication of aortic infective endocarditis. Group...
BACKGROUND
Gerbode defect is an unusual abnormal communication between the left ventricle and the right atrium and is a serious complication of aortic infective endocarditis. Group B Streptococcus is an uncommon cause of infective endocarditis and has a markedly destructive effect on valvular tissue. Acute fistulation between the left ventricle and the right atrium associated with this form of infective endocarditis is a life-threatening, aggressive complication that often requires urgent surgical intervention. However, the identification of actual communication is often extremely difficult. Herein, we describe an unusual case of Gerbode defect resulting from Group B Streptococcus infective endocarditis and discuss the issues surrounding such a rare cardiac defect and such an infection.
CASE PRESENTATION
A 60-year-old man with underlying uncontrolled diabetes mellitus underwent endoscopic retrograde biliary drainage for acute cholangitis. On the 10th postoperative day, the patient developed multiple acute cerebral embolisms. Transthoracic echocardiography demonstrated severe aortic regurgitation and a large mobile vegetation near the tricuspid annulus. No obvious fistula between the left ventricle and the right atrium could be demonstrated. The blood culture examination was positive for Group B Streptococcus. The patient was diagnosed with Group B Streptococcus infective endocarditis, and antibiotic therapy was initiated. Transesophageal echocardiogram performed after referral to our hospital confirmed detachment of the right coronary cusp of the aortic valve from the annulus and an abnormal cavity immediately below the right coronary cusp. Color Doppler imaging finally revealed systolic blood flows from the left ventricle into the right atrium through the cavity. Therefore, we diagnosed the patient with Gerbode defect resulting from Group B Streptococcus infective endocarditis. In addition to aortic valve replacement, defect closure and left ventricular outflow tract repair were successfully performed urgently for severely complicated and uncommon infective endocarditis. The patient was uneventfully discharged without any complications.
CONCLUSIONS
We reported successful surgical treatment of unusual active IE and Gerbode defect caused by GBS. Careful preoperative echocardiographic work-up is imperative for accurate early diagnosis and successful repair.
PubMed: 38890183
DOI: 10.1186/s40792-024-01943-5 -
Frontiers in Pediatrics 2024Bladder urachal cysts in children are a rare form of urachal abnormality. In this paper, we present a case of atypical imaging that presented with lower abdominal pain...
Bladder urachal cysts in children are a rare form of urachal abnormality. In this paper, we present a case of atypical imaging that presented with lower abdominal pain accompanied by hematuria, resulting in the formation of both internal and external urachal cysts in a child. A 6-year-old male child presented with repeated abdominal pain over a span of 4 days. Color ultrasound and pelvic CT scans revealed a soft tissue lesion on the right anterior wall of the bladder with an unclear boundary from the bladder wall. Voiding Cystourethrography (VCUG) showed no significant abnormalities in the bladder, while routine urine testing was positive for hematuria. A cystoscopy was simultaneously performed with a laparoscopic resection of the urachal cyst. Intraoperative cystoscopy identified the intravesical lesion, which was precisely removed using a cystoscope-assisted laparoscopy. Postoperative pathology confirmed that both extravesical and intravesical lesions were consistent with a urachal cyst. No complications were observed after the operation, and no recurrence was noted during a six-month follow-up. Therefore, for urachal cysts at the bladder's end, the possibility of intravesical urachal cysts should not be excluded, especially in patients with microscopic hematuria. We recommend performing cystoscopy simultaneously with laparoscopic urachal cyst removal to avoid missing intravesical lesions.
PubMed: 38887563
DOI: 10.3389/fped.2024.1410976 -
Investigative Ophthalmology & Visual... Jun 2024We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.
PURPOSE
We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.
METHODS
Fifty-three patients (mean age, 33.6 ± 16.7 years) with Usher syndrome owing to biallelic, mostly pathogenic, variants in MYO7A underwent baseline and two annual follow-up visits. Best-corrected visual acuity (BCVA), semiautomatic kinetic visual field, full-field electroretinogram, color fundus imaging, microperimetry, spectral-domain optical coherence tomography, and fundus autofluorescence were assessed.
RESULTS
At baseline, all patients presented with decreased BCVA (66.4 ± 17.9 Early Treatment Diabetic Retinopathy score and 59.5 ± 21.7 Early Treatment Diabetic Retinopathy score, in the better- and worse-seeing eyes, respectively), restricted semiautomatic kinetic visual field (III4e area, 3365.8 ± 4142.1°2; 4176.4 ± 4400.3°2) and decreased macular sensitivity (9.7 ± 9.9 dB; 9.0 ± 10.2 dB). Spectral-domain optical coherence tomography revealed reduced central macular thickness (259.6 ± 63.0 µm; 250.7 ± 63.3 µm) and narrowed ellipsoid zone band width (2807.5 ± 2374.6 µm; 2615.5 ± 2370.4 µm). Longitudinal analyses (50 patients) showed a significant decrease of BCVA in better-seeing eyes, whereas no changes were observed in worse-seeing eyes for any parameter. BCVA, semiautomatic kinetic visual field (III4e and V4e) and macular sensitivity were related significantly to age at baseline. Hyperautofluorescent foveal patch (16 eyes [31.4%]) and abnormal central hypoautofluorescence (9 eyes [17.6%]) were significantly associated with worse morphological and functional read-outs compared with the hyperautofluorescent ring pattern (22 eyes [43.1%]).
CONCLUSIONS
Our European multicentric study offers the first prospective longitudinal analysis in one of the largest cohorts of MYO7A patients described to date, confirming the slow disease progression. More important, this study emphasizes the key role of fundus autofluorescence patterns in retinal impairment staging and advocates its adoption as an objective biomarker in patient selection for future gene therapy clinical trials.
Topics: Humans; Male; Female; Adult; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Middle Aged; Electroretinography; Myosin VIIa; Visual Fields; Young Adult; Adolescent; Usher Syndromes; Genetic Therapy; Child; Visual Field Tests; Europe; Fluorescein Angiography; Follow-Up Studies; Aged; Longitudinal Studies; Disease Progression; Myosins; Retina
PubMed: 38884554
DOI: 10.1167/iovs.65.6.25 -
Translational Andrology and Urology May 2024Benign prostatic hyperplasia (BPH) is the most common benign disease causing voiding dysfunction in middle-aged and elderly men. the current "gold standard" for surgical...
Construction of early warning classification of risk in bladder spasm and its intervention plans guided by the rate adjustment card of continuous bladder irrigation after transurethral resection of the prostate (TURP): development and usability study.
BACKGROUND
Benign prostatic hyperplasia (BPH) is the most common benign disease causing voiding dysfunction in middle-aged and elderly men. the current "gold standard" for surgical treatment is transurethral resection of the prostate (TURP). Continuous bladder irrigation (CBI) is routinely given for 3 to 5 days after operation. However, this may induce bladder spasm. Bladder spasm not only brings physical and mental pain to patients, delaying the postoperative recovery process, but it also increases the medical economic burden. Therefore, it is important to take active measures to effectively warn and deal with bladder spasm. The color of the drainage fluid is an important indicator and requires close observation during CBI, as it can reflect real-time postoperative bleeding. When the color of drainage fluid is abnormal, effective measures should be undertaken. Grading nursing intervention divides patients into different conditions according to their possible changes, and then recommends targeted nursing intervention. Existing studies have formulated CBI programs from the perspective of quantifying the relationship between drainage fluid color and irrigation speed, but have yet to incorporate bladder spasm prevention and control levels or design corresponding grading nursing intervention programs according to different drainage fluid colors. This study aimed to construct the risk warning classification and intervention plan of bladder spasm under the guidance of CBI speed adjusting card after TURP.
METHODS
Based on the rate adjustment card of CBI after TURP, we formulated the first draft of an early warning classification of risk in bladder spasm and its intervention plans by combining methods suggested from a literature search with semi-structured interviews and results from 2 rounds of correspondence inquiries with 28 experts by the Delphi method. We further screened and revised grading standards and measures.
RESULTS
The positive coefficients of experts in 2 rounds of correspondence inquiries were both 100%, the authority coefficients were both 0.952, and the Kendall harmony coefficients were 0.238 and 0.326, respectively (P<0.01). In the second round of correspondence inquiries, the coefficient of variation of expert opinions was 0.000-0.154, and the coefficient of variation of all items was <0.25. Finally, a 3-level risk warning classification standard and 23 nursing measures for CBI complicated by bladder spasm was constructed.
CONCLUSIONS
The early warning classification of risk in bladder spasm and its intervention plans guided by rate adjustment card of CBI after TURP are scientific and feasible, and can provide a basis and guidance for effective and standardized CBI in patients after TURP.
PubMed: 38855586
DOI: 10.21037/tau-24-150 -
Annals of Medicine and Surgery (2012) Jun 2024It is common for the liver to be supplied blood by a hepatic artery branching off the coeliac trunk. Occasionally, a replaced common hepatic artery (RCHA), emerges from...
INTRODUCTION
It is common for the liver to be supplied blood by a hepatic artery branching off the coeliac trunk. Occasionally, a replaced common hepatic artery (RCHA), emerges from the superior mesenteric artery (SMA), can supply the liver in 1.5-4.0% of cases. Computed tomography (CT) angiography is a highly accurate method for identifying arterial anomalies, which may remain undetected until the time of surgery, leading to unexpected complications.
CASE PRESENTATION
A 53-year-old male exhibiting symptoms of decreased appetite, weight loss, vomiting, and altered sclera, urine, and stool colour, underwent a contrast-enhanced CT scan revealing biliary tract dilatation and pancreatic abnormalities, leading to a pancreaticoduodenectomy. During the surgery, an uncommon arterial finding-CHA from SMA-was noted. Pancreatic cancer was confirmed. The patient was discharged a week post-surgery without issues, emphasizing perioperative care progress.
DISCUSSION
The authors' study focused on the detection conditions of the same hepatic artery anomaly in eight cases reported between 2017 and 2023. In two of them the anomaly was discovered in cadaver by routine autopsy. In three cases, this variation was identified before the surgery, but in three other cases it wasn't detected until the surgical procedure. In the authors' case, due to multiple reasons, the anomaly remained undetectable until the surgery.
CONCLUSION
This study underscores the importance of thorough preoperative evaluation to grasp vascular variations for better patient care. Also, a noteworthy observation in our case is that the surgeon identified an expanded hepatic vessel, prompting further investigation into this anomaly.
PubMed: 38846897
DOI: 10.1097/MS9.0000000000002102 -
European Journal of Obstetrics &... Jun 2024Vein of Galen aneurysmal malformation (VGAM) is a rare vascular anomaly originating during embryonic development, specifically between the 6th and 11th weeks of... (Review)
Review
Vein of Galen aneurysmal malformation (VGAM) is a rare vascular anomaly originating during embryonic development, specifically between the 6th and 11th weeks of gestation. This malformation results from abnormal arteriovenous connections between primitive choroidal arteries and the median prosencephalic vein (MPV) of Markowski. Typically, the MPV regresses by the 11th week, but in VGAM, this regression is hindered, leading to persistent abnormal flow and the formation of arteriovenous shunts. We present a case of successful prenatal detection, as well as a comprehensive literature review that summarizes current knowledge, emphasizes the importance of prenatal detection, detailed imaging techniques, understanding clinical presentations, and outlines treatment options. Prenatal detection, crucial for early intervention, has become feasible through ultrasonography and MRI. Fetal MRI has emerged as the gold standard, offering detailed insights into arterial feeders, nidus presence, fistula position, venous drainage, and potential complications. The clinical presentation of VGAM varies with age, and neonates diagnosed in utero may exhibit signs of high-output cardiac failure. Early detection is critical for timely intervention, as untreated VGAMs often result in high mortality rates. Prognosis depends on the severity of heart failure, the number of arteriovenous shunts, and the presence of accompanying fetal abnormalities. Various imaging modalities, including CT angiography and digital subtraction angiography (DSA), aid in the assessment and treatment of VGAM. DSA remains the gold standard for evaluating angioarchitecture and guiding endovascular interventions. The optimal treatment for VGAM is transarterial embolization, offering significant improvements in prognosis. Surgical interventions are limited due to high morbidity and mortality. Management decisions should consider the balance between minimizing neurological damage and achieving maximum embolization effectiveness.
PubMed: 38846579
DOI: 10.1016/j.eurox.2024.100306